167
Views
1
CrossRef citations to date
0
Altmetric
Mutation Reports

Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1

ORCID Icon, , , , &
Pages 296-299 | Received 30 Jun 2020, Accepted 27 Feb 2021, Published online: 10 Mar 2021

References

  • Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res. 2015;45:58–110.
  • Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol. 2008;53(1):16–40.
  • Schubert G, Bornschein H. Analysis of the human electroretinogram. Ophthalmologica. 1952;123(6):396–413. doi:10.1159/000301211.
  • Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000;26(3):324–27. doi:10.1038/81627.
  • Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AB, Prinsen C, Polomeno RC, Gal A, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000;26(3):319–23. doi:10.1038/81619.
  • Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A. 2005;102(13):4884–89. doi:10.1073/pnas.0501233102.
  • Zeitz C, Van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Ma´tya´s G, Hoyng CB, Riemslag F, et al. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci. 2005;46(11):4328–35. doi:10.1167/iovs.05-0526.
  • Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone P, et al. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012;90(2):331–39. doi:10.1016/j.ajhg.2011.12.006.
  • Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu T, Lecompte O, Zrenner E, et al. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012;90(2):321–30. doi:10.1016/j.ajhg.2011.12.007.
  • Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, Orhan E, Zanlonghi X, Lancelot M-E, Michiels C, Schwartz S, et al. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2013;92(1):67–75. doi:10.1016/j.ajhg.2012.10.023.
  • Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Said S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009;85(5):720–29. doi:10.1016/j.ajhg.2009.10.013.
  • Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR, et al. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet. 2009;85(5):711–19. doi:10.1016/j.ajhg.2009.10.003.
  • Van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FCC, Gregg RG, Bergen AAB, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009;85(5):730–36. doi:10.1016/j.ajhg.2009.10.012.
  • Morgans CW, Zhang J, Jeffrey BG, Nelson SM, Burke NS, Duvoisin RM, Brown RL. TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells. Proc Natl Acad Sci U S A. 2009;106(45):19174–78. doi:10.1073/pnas.0908711106.
  • Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, Den Dunnen JT, Breuning MH, Hennekam RCM. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006;79(3):562–66. doi:10.1086/507567.
  • McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol. 2015;130(1):1–12. doi:10.1007/s10633-014-9473-7.
  • Zhou L, Li T, Xing YQ, Li Y, Wu QS, Zhang MJ. Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness. Int J Ophthalmol. 2016;9(10):1396–402. doi:10.18240/ijo.2016.10.05.
  • Hassfurther A, Komini E, Fischer J, Leipoldt M. Clinical and genetic heterogeneity of the 15q13.3 microdeletion syndrome. Mol Syndromol. 2016;6(5):222–28. doi:10.1159/000443343.
  • Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E. Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet. 2011;54(4):e441–5. doi:10.1016/j.ejmg.2011.04.004.
  • Huang XF, Mao JY, Huang ZQ, Rao FQ, Cheng FF, Li FF, Wang Q-F, Jin Z-B. Genome-wide detection of copy number variations in unsolved inherited retinal disease. Invest Ophthalmol Vis Sci. 2017;58(1):424–29. doi:10.1167/iovs.16-20705.
  • Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, et al. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med. 2017;19(6):643–51. doi:10.1038/gim.2016.158.
  • Van Schil K, Naessens S, Van De Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, et al. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet Med. 2018;20(2):202–13. doi:10.1038/gim.2017.97.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.